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学科主题: 临床医学
题名:
The first Chinese Pierson syndrome with novel mutations in LAMB2
作者: Zhao, Dan1; Ding, Jie1; Wang, Fang1; Fan, Qingfeng1; Guan, Na1; Wang, Suxia; Zhang, Yan1
关键词: autosomal recessive ; genotype ; myosis ; Pierson syndrome
刊名: NEPHROLOGY DIALYSIS TRANSPLANTATION
发表日期: 2010-03-01
DOI: 10.1093/ndt/gfp563
卷: 25, 期:3, 页:776-778
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Transplantation ; Urology & Nephrology
研究领域[WOS]: Transplantation ; Urology & Nephrology
关键词[WOS]: DISTINCT EYE ABNORMALITIES ; CONGENITAL NEPHROSIS ; MESANGIAL SCLEROSIS
英文摘要:

Methods. A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing.

Results. Two novel mutations were identified, C757fsX767 and P1413fsX1451, which predicted truncated proteins and were confirmed in the paternal and maternal origins, respectively.

Conclusions. This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. The phenotype may be different in different ethics.

语种: 英语
所属项目编号: 30170992 ; 30672259 ; 30830105 ; 30801250 ; 2006BAI05A07
项目资助者: National Nature Science Foundation of China ; National 11th Five-year Project
WOS记录号: WOS:000274987800021
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54940
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Electron Microscopy, Beijing 100034, Peoples R China

Recommended Citation:
Zhao, Dan,Ding, Jie,Wang, Fang,et al. The first Chinese Pierson syndrome with novel mutations in LAMB2[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION,2010,25(3):776-778.
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